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Article

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

American journal of human genetics - 10 Dec 2010

Tian Jing, Ling Ling, Shboul Mohammad, Lee Hane, O'Connor Brian, Merriman Barry, Nelson Stanley F, Cool Simon, Ababneh Osama H, Al-Hadidy Azmy, Masri Amira, Hamamy Hanan, Reversade Bruno

Abstract excerpt

We delineated a syndromic recessive preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a truncating frameshift mutation in the gene CHSY1 encoding a chondroitin synthase with a Fringe...

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Share to Foot Deformities, Congenital
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to N-Acetylgalactosaminyltransferases

Share to Receptors, Notch

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Share to Sequence Homology, Amino Acid

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Source

Open in PubMed Open full text

Identifiers

PMID: 21129727
DOI: 10.1016/j.ajhg.2010.11.005
PMCID: PMC2997365

Genes

CHSY1
JAG1
JAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21129727-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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